FKBPL

Chr 6

FKBP prolyl isomerase like

Also known as: DIR1, NG7, WISP39

The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
1.62
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.62LOEUF
pLI 0.000
Z-score -0.23
OE 1.07 (0.711.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.42Z-score
OE missense 0.71 (0.620.82)
136 obs / 191.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.07 (0.711.62)
00.351.4
Missense OE?0.71 (0.620.82)
00.61.4
Synonymous OE?0.73
01.21.6
LoF obs/exp: 15 / 14.1Missense obs/exp: 136 / 191.2Syn Z: 1.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FKBPL · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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